Canonical Allele Identifier: PA2827005314
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207692
ClinVar RCV Id: RCV000189942 RCV000473026 RCV000570790 RCV003996872 RCV004537592
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Val1596Met
CA053941
NM_001318827.2:c.4786G>A